Variant report

Variant	rs55900444
Chromosome Location	chr2:113494872-113494873
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113484570..113488496-chr2:113489411..113495681,5	K562	blood:
2	chr2:113491290..113493368-chr2:113494411..113496403,2	MCF-7	breast:
3	chr2:113389533..113392236-chr2:113492953..113495168,2	K562	blood:
4	chr2:113493806..113496306-chr2:113496451..113497981,2	K562	blood:
5	chr2:113494174..113497149-chr2:113498169..113501169,3	K562	blood:
6	chr2:113494683..113496811-chr2:113506121..113508526,2	K562	blood:

Variant related genes	Relation type
ENSG00000144130	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17040306	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17042289	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17042293	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17042296	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17042298	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55712130	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56152754	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60255523	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6542099	1.00[AMR][1000 genomes]
rs6744790	1.00[AMR][1000 genomes]
rs72952103	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952128	0.87[AFR][1000 genomes]
rs73955242	1.00[AMR][1000 genomes]
rs7597191	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv526301	chr2:113451498-113495785	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113484200-113497200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:113484400-113495000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:113484400-113495600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:113484400-113495600	Weak transcription	Thymus	Thymus
5	chr2:113484400-113495800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:113484400-113495800	Weak transcription	GM12878-XiMat	blood
7	chr2:113484400-113496400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:113484400-113507400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:113484600-113507600	Weak transcription	Colonic Mucosa	Colon
10	chr2:113484800-113495600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:113484800-113496200	Weak transcription	NHDF-Ad	bronchial
12	chr2:113484800-113507600	Weak transcription	Primary B cells from cord blood	blood
13	chr2:113486200-113495000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:113486400-113495800	Weak transcription	HUVEC	blood vessel
15	chr2:113486600-113496200	Weak transcription	Placenta	Placenta
16	chr2:113486600-113511600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:113487600-113495800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:113487600-113495800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:113487600-113496000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr2:113488200-113495800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr2:113488200-113495800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:113488200-113507400	Weak transcription	Spleen	Spleen
23	chr2:113488600-113495200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:113491000-113520800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:113491200-113495400	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:113491400-113495600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:113491400-113498800	Weak transcription	Fetal Kidney	kidney
28	chr2:113491800-113507200	Weak transcription	Fetal Brain Female	brain
29	chr2:113492000-113497600	Weak transcription	K562	blood
30	chr2:113492200-113495400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr2:113492200-113495800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:113492200-113497600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr2:113492200-113512000	Weak transcription	Fetal Heart	heart
34	chr2:113492400-113497400	Weak transcription	NHLF	lung
35	chr2:113492400-113498000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr2:113492400-113498000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:113492400-113498000	Weak transcription	Fetal Lung	lung
38	chr2:113492400-113507600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr2:113492800-113495200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:113493000-113495800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:113493600-113495200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr2:113494000-113496000	Enhancers	Osteobl	bone
43	chr2:113494000-113496800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr2:113494200-113495800	Enhancers	Muscle Satellite Cultured Cells	--
45	chr2:113494200-113506400	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr2:113494200-113507400	Strong transcription	Fetal Thymus	thymus
47	chr2:113494200-113519600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:113494400-113495000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:113494400-113495600	Enhancers	Hela-S3	cervix
50	chr2:113494400-113496200	Enhancers	Stomach Mucosa	stomach

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